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Carbohydrate Deficient Glycoprotein Syndrome Type Ia
Condition Overview: Carbohydrate-deficient Glycoprotein Syndrome Type Ia (CDG1A) is an extremely rare inherited metabolic disorder belonging to a group of diseases known as Carbohydrate-deficient Glycoprotein Syndromes (CDGS).** These disorders are characterized by the presence of abnormal oligosaccharides, or "sugar chains," on many glycoproteins (e.g., transferrin). Glycoproteins are compounds in which oligosaccharides are "attached" to certain proteins. Oligosaccharides are sugars that are linked together in a very specific manner and may help to define the function of the glycoprotein in the body.Glycoproteins have several important functions in the body. They play a role in the complex chemical processes that enable the body to function normally. Examples include signalling how cells in the body interact with one another, participating in the transfer of nutrients from one part of the body to another (transport), playing a role in the proper coagulation of blood, functioning as hormones that regulate certain organs or activities in the body (i.e., endocrine activities that help to regulate the rate of growth, sexual development, and/or metabolism), etc. Carbohydrate-deficient Glycoprotein Syndrome Type Ia is the most common form of CDGS and affects most systems of the body, particularly the function of the central nervous system (i.e., the brain and spinal cord), the peripheral nervous system (i.e., motor and sensory nerves outside the central nervous system), and the liver, which makes many of the glycoproteins in the blood. Although the severity and range of symptoms may vary from case to case, most affected individuals exhibit severe delays in the acquisition of skills that require the coordination of mental and muscular activity (psychomotor retardation); moderate to severe mental retardation; impaired coordination and balance (cerebellar ataxia) due to underdevelopment (hypoplasia) of certain portions of the brain (cerebellum); impaired nerve transmission to the legs, resulting in progressive, severe muscle thinning and weakness (peripheral neuropathy); skeletal malformations; and/or visual and/or hearing impairment. CDGS Type Ia is thought to be inherited as an autosomal recessive genetic trait. **NOTE: Please note that the "Related Disorders" section of the full-text version of this report includes information on Carbohydrate-deficient Glycoprotein Syndromes Types II, III, IV, and Ib. . |
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